Human Gene LRP1 (ENST00000553277.5) from GENCODE V44
  Description: LDL receptor related protein 1 (from HGNC LRP1)
RefSeq Summary (NM_002332): This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015].
Gencode Transcript: ENST00000553277.5
Gencode Gene: ENSG00000123384.14
Transcript (Including UTRs)
   Position: hg38 chr12:57,128,493-57,150,059 Size: 21,567 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg38 chr12:57,128,965-57,149,729 Size: 20,765 Coding Exon Count: 7 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 09:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:57,128,493-57,150,059)mRNA (may differ from genome)Protein (296 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
LynxMGImyGene2PubMedUniProtKBWikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: LRP1
Diseases sorted by gene-association score: keratosis pilaris atrophicans* (1291), atrophoderma vermiculata* (750), burnett schwartz berberian syndrome* (400), keratosis follicularis spinulosa decalvans* (261), alzheimer disease (16), keratosis (15), cerebral amyloid angiopathy (10), liposarcoma (8), myxoid liposarcoma (8)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 149.51 RPKM in Cells - Cultured fibroblasts
Total median expression: 2022.06 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -223.80472-0.474 Picture PostScript Text
3' UTR -104.00330-0.315 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011042 - 6-blade_b-propeller_TolB-like
IPR000742 - EG-like_dom
IPR001881 - EGF-like_Ca-bd
IPR013032 - EGF-like_CS
IPR018097 - EGF_Ca-bd_CS
IPR023415 - LDLR_class-A_CS
IPR002172 - LDrepeatLR_classA_rpt

Pfam Domains:
PF07645 - Calcium-binding EGF domain
PF00057 - Low-density lipoprotein receptor domain class A

ModBase Predicted Comparative 3D Structure on Q7Z7K9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding


-  Descriptions from all associated GenBank mRNAs
  LF208941 - JP 2014500723-A/16444: Polycomb-Associated Non-Coding RNAs.
MA444518 - JP 2018138019-A/16444: Polycomb-Associated Non-Coding RNAs.
BC052593 - Homo sapiens low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor), mRNA (cDNA clone IMAGE:6575284), complete cds.
BC072015 - Homo sapiens low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor), mRNA (cDNA clone IMAGE:6384902), complete cds.
HZ466381 - JP 2015532642-A/5: MicroRNAs that Suppress Human Melanoma.
LP722496 - Sequence 9 from Patent EP2882496.
MA622446 - JP 2018140982-A/5: MicroRNAs that Suppress Human Melanoma.
X13916 - Human mRNA for LDL-receptor related protein.
BC045107 - Homo sapiens low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor), mRNA (cDNA clone IMAGE:4859182), complete cds.
BC021204 - Homo sapiens low density lipoprotein-related protein 1 (alpha-2-macroglobulin receptor), mRNA (cDNA clone IMAGE:4110815), complete cds.
KJ901558 - Synthetic construct Homo sapiens clone ccsbBroadEn_10952 LRP1 gene, encodes complete protein.
AB209498 - Homo sapiens mRNA for low density lipoprotein-related protein 1 variant protein.
LF208943 - JP 2014500723-A/16446: Polycomb-Associated Non-Coding RNAs.
MA444520 - JP 2018138019-A/16446: Polycomb-Associated Non-Coding RNAs.
MP557060 - Sequence 9 from Patent EP3626309.
JD511793 - Sequence 492817 from Patent EP1572962.
JD201019 - Sequence 182043 from Patent EP1572962.
LF324390 - JP 2014500723-A/131893: Polycomb-Associated Non-Coding RNAs.
MA559967 - JP 2018138019-A/131893: Polycomb-Associated Non-Coding RNAs.
JD481771 - Sequence 462795 from Patent EP1572962.
JD054668 - Sequence 35692 from Patent EP1572962.
JD123098 - Sequence 104122 from Patent EP1572962.
LF324388 - JP 2014500723-A/131891: Polycomb-Associated Non-Coding RNAs.
MA559965 - JP 2018138019-A/131891: Polycomb-Associated Non-Coding RNAs.
JD082676 - Sequence 63700 from Patent EP1572962.
JD488666 - Sequence 469690 from Patent EP1572962.
CU692248 - Synthetic construct Homo sapiens gateway clone IMAGE:100023062 5' read LRP1 mRNA.
LF324386 - JP 2014500723-A/131889: Polycomb-Associated Non-Coding RNAs.
MA559963 - JP 2018138019-A/131889: Polycomb-Associated Non-Coding RNAs.
LF324376 - JP 2014500723-A/131879: Polycomb-Associated Non-Coding RNAs.
MA559953 - JP 2018138019-A/131879: Polycomb-Associated Non-Coding RNAs.
LF324374 - JP 2014500723-A/131877: Polycomb-Associated Non-Coding RNAs.
MA559951 - JP 2018138019-A/131877: Polycomb-Associated Non-Coding RNAs.
LF324370 - JP 2014500723-A/131873: Polycomb-Associated Non-Coding RNAs.
MA559947 - JP 2018138019-A/131873: Polycomb-Associated Non-Coding RNAs.
LF324368 - JP 2014500723-A/131871: Polycomb-Associated Non-Coding RNAs.
MA559945 - JP 2018138019-A/131871: Polycomb-Associated Non-Coding RNAs.
LF324366 - JP 2014500723-A/131869: Polycomb-Associated Non-Coding RNAs.
MA559943 - JP 2018138019-A/131869: Polycomb-Associated Non-Coding RNAs.
LF324365 - JP 2014500723-A/131868: Polycomb-Associated Non-Coding RNAs.
MA559942 - JP 2018138019-A/131868: Polycomb-Associated Non-Coding RNAs.
LF324364 - JP 2014500723-A/131867: Polycomb-Associated Non-Coding RNAs.
MA559941 - JP 2018138019-A/131867: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa05010 - Alzheimer's disease

-  Other Names for This Gene
  Alternate Gene Symbols: BC052593, ENST00000553277.1, ENST00000553277.2, ENST00000553277.3, ENST00000553277.4, Q7Z7K9, Q7Z7K9_HUMAN, uc001snb.1, uc001snb.2, uc001snb.3, uc001snb.4
UCSC ID: ENST00000553277.5
RefSeq Accession: NM_002332
Protein: Q7Z7K9

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.